A2V (p.Ala2Val) variant of ABCC1 (P33527)
A2V (p.Ala2Val) in ABCC1 (P33527) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- gnomAD 16-15949756-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.05
- CADD 23.10
- PolyPhen-2 0.15
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available